Web Access Research Portal

Researcher: Burdon, KP (Associate Professor Kathryn Burdon)

Fields of Research

Ophthalmology
Genomics
Quantitative Genetics (incl. Disease and Trait Mapping Genetics)
Vision Science
Medical Genetics (excl. Cancer Genetics)
Bioethics (human and animal)
Neurogenetics
Epidemiology
Immunogenetics (incl. Genetic Immunology)
Central Nervous System
Autoimmunity
Primary Health Care
Medical Ethics
Medical Biochemistry: Amino Acids and Metabolites

Research Objectives

Hearing, Vision, Speech and Their Disorders
Inherited Diseases (incl. Gene Therapy)
Diabetes
Nervous System and Disorders
Bioethics
Health
Preventive Medicine
Behaviour and Health
Health Status (e.g. Indicators of Well-Being)
Expanding Knowledge in the Medical and Health Sciences

Career Best Publications

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma; Nature Genetics
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus; Nature Genetics
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1; Nature Genetics
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation; American Journal of Human Genetics

Research Publications

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure; Human Molecular Genetics
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma; Molecular Vision
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome; Nature Genetics
A common variant near TGFBR3 is associated with primary open angle glaucoma; Human Molecular Genetics
A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma; Molecular Vision
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants; Nature Genetics
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma; BMC Medical Genetics
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family; American Journal of Medical Genetics. Part A
A novel locus for X-linked congenital cataract on Xq24; Molecular Vision
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance; Journal of Medical Genetics
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32; BMC Medical Genetics
A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients; Acta Diabetologica
A systematic meta-analysis of genetic association studies for diabetic retinopathy; Diabetes
A Turkish family with Nance-Horan syndrome due to a novel mutation; Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function
Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma; Investigative Ophthalmology and Visual Science
Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility; Diabetes Care
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people; Human Molecular Genetics
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity; Journal of Clinical Investigation
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci; Human Genetics
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration; Scientific Reports
Association between erythropoietin gene polymorphisms and diabetic retinopathy; Archives of Ophthalmology
Association of Arachidonate 12-Lipoxygenase Genotype Variation and Glycemic Control With Albuminuria in Type 2 Diabetes; American Journal of Kidney Diseases
Association of eNOS polymorphisms with primary angle-closure glaucoma; Investigative Ophthalmology and Visual Science (Iovs)
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye; Investigative Ophthalmology & Visual Science
Association of genetic variants with primary angle closure glaucoma in two different populations; PLoS One
Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study; American Journal of Ophthalmology
Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy; Investigative Ophthalmology and Visual Science (IOVS)
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus; Investigative Ophthalmology and Visual Science
Association of TCF4 and CLU polymorphisms with Fuchs endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process; European Journal of Human Genetics
Australian and New Zealand Registry of Advanced Glaucoma: Methodology and recruitment; Clinical and Experimental Ophthalmology
Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population; Investigative Ophthalmology and Visual Science
Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome; Experimental Eye Research
Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness; Molecular Vision
Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review
Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness; PL o S Genetics (Print)
Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy; Investigative Ophthalmology and Visual Science (Iovs)
Common sequence variation in the VEGFC gene is associated with diabetic retinopathy and diabetic macular edema; Ophthalmology
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma; Nature Genetics
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma; Nature Genetics
Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma; Molecular Vision
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma; Investigative Ophthalmology and Visual Science
Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma; American Journal of Ophthalmology
Diabetic retinopathy is associated with elevated serum asymmetric and symmetric dimethylarginines; Diabetes Care
Diabetic retinopathy is not associated with carbonic anhydrase gene polymorphisms; Molecular Vision
Differential gene expression profiling of orbital adipose tissue in thyroid orbitopathy; Investigative Ophthalmology and Visual Science
Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma; Investigative Ophthalmology & Visual Science
EPHA2 mutations contribute to congenital cataract through diverse mechanisms; Molecular Vision
Ethical considerations for the return of incidental findings in ophthalmic genomic research; Translational Vision Science and Technology
Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype; PLoS One
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome; Ophthalmic Genetics
Functional and structural implications of the complement factor H Y402H polymorphism associated with Age-Related macular degeneration; Investigative Ophthalmology and Visual Science (Iovs)
Genetic analysis of the clusterin gene in pseudoexfoliation syndrome; Molecular Vision
Genetic analysis of the soluble epoxide hydrolase gene, EPHX2, in subclinical cardiovascular disease in the Diabetes Heart Study; Diabetes and Vascular Disease Research
Genetic association at the 9p21 glaucoma locus contributes to sex bias in normal-tension glaucoma; Investigative Ophthalmology and Visual Science
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci; Nature Genetics
Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma; American Journal of Ophthalmology
Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics; Clinical and Experimental Ophthalmology
Genetic study of diabetic retinopathy: Recruitment methodology and analysis of baseline characteristics; Clinical and Experimental Ophthalmology
Genetic variation near GRB2 and KCNB2 identified by a genome-wide association study are reproducibly associated with diabetic retinopathy (Abstract); Clinical and Experimental Ophthalmology
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma; Nature Genetics
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus; Nature Genetics
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma; Nature Genetics
Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review; Clinical and Experimental Ophthalmology
Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene; Diabetologia
Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma; Nature Genetics
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1; Nature Genetics
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy; Nature Communications
Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia; Nature Genetics
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma; Nature Genetics
Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma; Ophthalmology
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants; European Journal of Human Genetics
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration; Scientific Reports
Heritability of Central Corneal Thickness in Nuclear Families ; Investigative Ophthalmology and Visual Science (Iovs)
Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an australasian disease registry; Ophthalmology
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma; American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man
Human lipoxygenase pathway gene variation and association with markers of subclinical atherosclerosis in the diabetes heart study; Mediators of Inflammation
Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma; Gene
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family; Human Mutation
Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry; Experimental Eye Research: An International Journal Devoted to Scientific Research on The Eye
Insights into keratoconus from a genetic perspective; Clinical and Experimental Optometry
Investigation of albinism genes in congenital esotropia; Molecular Vision
Investigation of crystallin genes in familial cataract, and report of two disease associated mutations; British Journal of Ophthalmology
Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract; Molecular Vision
MALDI-MS-imaging of whole human lens capsule; Journal of Proteome Research
Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population; Molecular Vision
Measurement of systemic mitochondrial function in advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy; PLoS One
Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology; Genetic Epidemiology
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process; Nature Communications
Mutation in TMEM98 in a large white kindred with Autosomal Dominant Nanophthalmos linked to 17p12-q12; JAMA Ophthalmology
Mutational analysis of MIR184 in sporadic keratoconus and myopia; Investigative Ophthalmology and Visual Science (Iovs)
Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation; American Journal of Human Genetics
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia; PLoS One
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity; Clinical and Experimental Ophthalmology
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract; Human Mutation
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics; Human Molecular Genetics
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error; American Journal of Human Genetics: A Record of Research, Review and Bibliographic Material Relating to Heredity in Man
Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform; Molecular Vision
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome); BMC Medical Genetics
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes; Human Genetics
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss; JAMA Ophthalmology
Ocular expression and distribution of products of the POAG-Associated chromosome 9p21 Gene Region; PL o S One
Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract; European Journal of Human Genetics
Pooled genome wide association detects association upstream of FCRL3 with Graves' disease; BMC Genomics
Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma; Genetics in Medicine
Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma; Clinical Genetics
Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy; Diabetes and Vascular Disease Research
Rapid inexpensive genome-wide association using pooled whole blood; Genome Research
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma; Molecular Genetics & Genomic Medicine
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract; BMC Research Notes
Relationship between DDAH gene variants and serum ADMA level in individuals with type 1 diabetes; Journal of Diabetes and Its Complications
Relative selenium deficiency in Graves' orbitopathy (Poster Abstract); Clinical and Experimental Ophthalmology
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus; Investigative Ophthalmology and Visual Science (Iovs)
Reply: Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?; JAMA Ophthalmology
Review of the prevalence of diabetic retinopathy in Indigenous Australians; Clinical and Experimental Ophthalmology
Role of direct-to-consumer genetic testing for complex disease in diagnostics and research; Clinical and Experimental Ophthalmology
Screening of the COL8A2 gene in an Australian family with early-onset Fuchs’ endothelial corneal dystrophy; Clinical and Experimental Ophthalmology
Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene; Clinical and Experimental Ophthalmology
Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene; Clinical and Experimental Ophthalmology
Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes; PL o S One
Serum selenium status in Graves’ disease with and without orbitopathy: a case–control study; Clinical Endocrinology
Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma; Molecular Vision
The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population; Molecular Vision
The genetics of central corneal thickness
The relative contribution of the X chromosome to ocular phenotypes; Ophthalmic Genetics
The role of toll-like receptor variants in acute anterior uveitis; Molecular Vision
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes; British Journal of Ophthalmology
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma; PLoS ONE
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness; Human Molecular Genetics

Research Projects

From Discovery to therapy in genetic eye diseases; National Health & Medical Research Council (NHMRC)
DNA sequencer for genetic research; Ian Potter Foundation (IPF)
Finding glaucoma susceptibility variants by sequencing large families known to carry disease genes; National Health & Medical Research Council (NHMRC)
Gene Identification for Keratoconus - a Blinding Eye Disease; National Health & Medical Research Council (NHMRC)
High penetrance deleterious mutations in blinding glaucoma; National Health & Medical Research Council (NHMRC)
Tasmanian Opthalmic Biobank; Tasmanian Community Fund (TasCF)
Understanding genetic causes of blindness; National Health & Medical Research Council (NHMRC)

Research Candidate Supervision